engleski

S-adenosylhomocysteine hydrolase (AHCY )deficiency: A natural model system for methylation research

AHCY deficiency is a new human methylation disorder, discovered recently in Croatia, and a natural model for investigating processes related to the methylome. Methylation plays an important role in regulating biological processes and is crucial for gene expression, imprinting, signalling, protein synthesis and lipid metabolism. Thus, methylation has broad impact and provides a suitable base for interdisciplinary research. Linking genomics, proteomics, cellomics, lipidomics and metabolomics and other omics approaches may create a new research avenue – ‘AHCYdomics’ - a new methylation research platform based on AHCY deficiency. Using such research platform will allow to efficiently explore the full potential of the human methylation disorder AHCY deficiency, and to design methods and approaches that will lead to a better understanding of the human methylome.

methylation disorder; metabolic disease; genotype-phenotype; homocysteine; human mutation; S-Adenosylmethionine (SAM); S-Adenosylmethionine (SAM); S-Adenosylhomocysteine- hydrolase (AHCY)

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